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Congenital nystagmus v1.21 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Congenital nystagmus v1.20 MTSS1L Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Congenital nystagmus v1.19 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Congenital nystagmus v1.18 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Congenital nystagmus v1.18 ROBO1 Zornitza Stark Gene: robo1 has been classified as Red List (Low Evidence).
Congenital nystagmus v1.18 ROBO1 Zornitza Stark Classified gene: ROBO1 as Red List (low evidence)
Congenital nystagmus v1.18 ROBO1 Zornitza Stark Gene: robo1 has been classified as Red List (Low Evidence).
Congenital nystagmus v1.17 ROBO1 Zornitza Stark reviewed gene: ROBO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nystagmus 8, congenital, autosomal recessive, MIM# 257400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.17 ROBO1 Achchuthan Shanmugasundram gene: ROBO1 was added
gene: ROBO1 was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO1 were set to 35348658
Phenotypes for gene: ROBO1 were set to nystagmus, congenital, autosomal recessive, MONDO:0009762
Review for gene: ROBO1 was set to RED
Added comment: Comment on classification of gene: This gene should be rated RED as this gene has been associated with nystagmus from only one family.

PMID:35348658 reported three male siblings from the same family with nystagmus and they were identified with a homozygous missense variant p.Ser1522Leu.

This gene has not yet been associated with any phenotypes either in OMIM or Gene2Phenotype.
Sources: Literature
Congenital nystagmus v1.17 Zornitza Stark List of related panels changed from to Nystagmus HP:0000639
Congenital nystagmus v1.16 MTSS1L Elena Savva Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)
Congenital nystagmus v1.15 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Congenital nystagmus v1.15 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.14 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)
- Overexpression supports a DN mechanism
Sources: Literature
Congenital nystagmus v1.13 DOHH Zornitza Stark Phenotypes for gene: DOHH were changed from Neurodevelopmental disorder, DOHH-related (MONDO#0700092) to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066
Congenital nystagmus v1.12 DOHH Zornitza Stark reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.12 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Congenital nystagmus v1.12 DOHH Zornitza Stark Marked gene: DOHH as ready
Congenital nystagmus v1.12 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Congenital nystagmus v1.12 DOHH Zornitza Stark Classified gene: DOHH as Green List (high evidence)
Congenital nystagmus v1.12 DOHH Zornitza Stark Gene: dohh has been classified as Green List (High Evidence).
Congenital nystagmus v1.11 DOHH Daniel Flanagan gene: DOHH was added
gene: DOHH was added to Congenital nystagmus. Sources: Expert list
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to PMID: 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)
Review for gene: DOHH was set to GREEN
Added comment: Bi-allelic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. Clinical features were developmental delay and/or intellectual disability (5/5), microcephaly (5/5), visual impairment (nystagmus (3/5), strabismus (3/5), and cortical visual impairment (1/5)) and congenital heart malformations (3/5 individuals).
Sources: Expert list
Congenital nystagmus v1.11 GRID2 Ain Roesley Marked gene: GRID2 as ready
Congenital nystagmus v1.11 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.11 GRID2 Ain Roesley Classified gene: GRID2 as Green List (high evidence)
Congenital nystagmus v1.11 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.10 GRID2 Ain Roesley gene: GRID2 was added
gene: GRID2 was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 32622959
Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Review for gene: GRID2 was set to GREEN
gene: GRID2 was marked as current diagnostic
Added comment: Nystagmus reported in majority of cases
Sources: Literature
Congenital nystagmus v1.9 RGS9BP Bryony Thompson Deleted their review
Congenital nystagmus v1.9 RGS9 Bryony Thompson Deleted their review
Congenital nystagmus v1.9 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Congenital nystagmus v1.8 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Congenital nystagmus v1.8 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Congenital nystagmus v1.6 AP3D1 Zornitza Stark Publications for gene: AP3D1 were set to 26744459; 9697856
Congenital nystagmus v1.5 AP3D1 Zornitza Stark Classified gene: AP3D1 as Green List (high evidence)
Congenital nystagmus v1.5 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Green List (High Evidence).
Congenital nystagmus v1.4 AP3D1 Zornitza Stark commented on gene: AP3D1: Now four affected individuals from two unrelated families, with a mouse model that recapitulates the human phenotype.
Congenital nystagmus v1.4 AP3D1 Zornitza Stark edited their review of gene: AP3D1: Changed rating: GREEN; Changed publications: 26744459, 9697856, 30472485
Congenital nystagmus v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital nystagmus v1.0 Zornitza Stark promoted panel to version 1.0
Congenital nystagmus v0.168 MITF Zornitza Stark Marked gene: MITF as ready
Congenital nystagmus v0.168 MITF Zornitza Stark Gene: mitf has been classified as Red List (Low Evidence).
Congenital nystagmus v0.168 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 to Tietz albinism-deafness syndrome 103500
Congenital nystagmus v0.167 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 MITF Zornitza Stark reviewed gene: MITF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tietz albinism-deafness syndrome 103500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 ITM2B Zornitza Stark Marked gene: ITM2B as ready
Congenital nystagmus v0.166 ITM2B Zornitza Stark Gene: itm2b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.166 ITM2B Zornitza Stark Phenotypes for gene: ITM2B were changed from ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 to Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Congenital nystagmus v0.165 ITM2B Zornitza Stark Publications for gene: ITM2B were set to
Congenital nystagmus v0.164 ITM2B Zornitza Stark reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from Auriculocondylar syndrome 1 602483; Ocular Albinism to Ocular albinism
Congenital nystagmus v0.163 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 GNAI3 Zornitza Stark reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: 27607449; Phenotypes: Ocular albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Congenital nystagmus v0.162 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Congenital nystagmus v0.162 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Congenital nystagmus v0.161 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.161 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Congenital nystagmus v0.161 MYO5A Zornitza Stark Gene: myo5a has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.161 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from Griscelli syndrome, type 1 214450 AR to Griscelli syndrome, type 1, MIM# 214450
Congenital nystagmus v0.160 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Congenital nystagmus v0.159 MYO5A Zornitza Stark reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 32275080, 33981514, 22711375; Phenotypes: Griscelli syndrome, type 1, MIM# 214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.159 MLPH Zornitza Stark Marked gene: MLPH as ready
Congenital nystagmus v0.159 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.159 MLPH Zornitza Stark Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3 609227 AR to Griscelli syndrome, type 3, MIM# 609227
Congenital nystagmus v0.158 MLPH Zornitza Stark Classified gene: MLPH as Red List (low evidence)
Congenital nystagmus v0.158 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.157 MLPH Zornitza Stark reviewed gene: MLPH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.157 MANBA Zornitza Stark Marked gene: MANBA as ready
Congenital nystagmus v0.157 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.157 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 AR to Nystagmus, autosomal dominant
Congenital nystagmus v0.156 MANBA Zornitza Stark Publications for gene: MANBA were set to
Congenital nystagmus v0.155 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552791, 25741867; Phenotypes: Nystagmus, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Classified gene: LAMA1 as Green List (high evidence)
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 LAMA1 Zornitza Stark reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7 614076 AR to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Congenital nystagmus v0.152 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Classified gene: DTNBP1 as Green List (high evidence)
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.150 DCT Zornitza Stark Marked gene: DCT as ready
Congenital nystagmus v0.150 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Congenital nystagmus v0.150 DCT Zornitza Stark Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, MIM# 619165
Congenital nystagmus v0.149 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Congenital nystagmus v0.149 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from ?Hermansky-pudlak syndrome 9 614171 AR to Hermansky-Pudlak syndrome 9, MIM# 614171
Congenital nystagmus v0.147 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Marked gene: BLOC1S5 as ready
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Classified gene: BLOC1S5 as Green List (high evidence)
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Classified gene: BLOC1S3 as Green List (high evidence)
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Phenotypes for gene: AP3D1 were changed from ?Hermansky-Pudlak syndrome 10 617050 AR to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Congenital nystagmus v0.143 AP3D1 Zornitza Stark Publications for gene: AP3D1 were set to
Congenital nystagmus v0.142 AP3D1 Zornitza Stark Classified gene: AP3D1 as Red List (low evidence)
Congenital nystagmus v0.142 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.141 AP3D1 Zornitza Stark reviewed gene: AP3D1: Rating: RED; Mode of pathogenicity: None; Publications: 26744459, 9697856; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.141 AHR Zornitza Stark Marked gene: AHR as ready
Congenital nystagmus v0.141 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.141 AHR Zornitza Stark Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia without albinism; Infantile nystagmus
Congenital nystagmus v0.140 AHR Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710, 31896775; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from Oculocutaneous Albinism; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous albinism type IV,606574 to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Congenital nystagmus v0.139 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; MONDO:0012216
Congenital nystagmus v0.137 SLC38A8 Zornitza Stark reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24045842, 24290379, 34415986, 34037952, 33498813; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI to Albinism, oculocutaneous, type VI, MIM# 113750
Congenital nystagmus v0.136 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970; retinal dysfunction; nystagmus; autism to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Congenital nystagmus v0.134 RIMS2 Zornitza Stark Publications for gene: RIMS2 were set to
Congenital nystagmus v0.133 RIMS2 Zornitza Stark commented on gene: RIMS2: Nystagmus is a reported feature.
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Classified gene: SLC24A1 as Red List (low evidence)
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.132 SLC24A1 Zornitza Stark reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM# 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.132 SETX Zornitza Stark Marked gene: SETX as ready
Congenital nystagmus v0.132 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Congenital nystagmus v0.132 SETX Zornitza Stark Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Congenital nystagmus v0.131 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.130 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.130 SAG Zornitza Stark Marked gene: SAG as ready
Congenital nystagmus v0.130 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Congenital nystagmus v0.130 SAG Zornitza Stark Publications for gene: SAG were set to
Congenital nystagmus v0.129 SAG Zornitza Stark Classified gene: SAG as Red List (low evidence)
Congenital nystagmus v0.129 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Congenital nystagmus v0.128 SAG Zornitza Stark edited their review of gene: SAG: Changed rating: RED
Congenital nystagmus v0.128 SAG Zornitza Stark changed review comment from: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

Well established gene-disease association, multiple families reported.; to: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

Well established gene-disease association, multiple families reported. Nystagmus is not a feature.
Congenital nystagmus v0.128 SACS Zornitza Stark Marked gene: SACS as ready
Congenital nystagmus v0.128 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Congenital nystagmus v0.128 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type 270550 AR to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Congenital nystagmus v0.127 SACS Zornitza Stark reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Marked gene: RGS9BP as ready
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Gene: rgs9bp has been classified as Red List (Low Evidence).
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Classified gene: RGS9BP as Red List (low evidence)
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Gene: rgs9bp has been classified as Red List (Low Evidence).
Congenital nystagmus v0.126 RGS9BP Zornitza Stark reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.126 RGS9 Zornitza Stark Marked gene: RGS9 as ready
Congenital nystagmus v0.126 RGS9 Zornitza Stark Gene: rgs9 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.126 RGS9 Zornitza Stark Classified gene: RGS9 as Red List (low evidence)
Congenital nystagmus v0.126 RGS9 Zornitza Stark Gene: rgs9 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.125 RGS9 Zornitza Stark reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.125 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Congenital nystagmus v0.125 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Congenital nystagmus v0.125 PDE6H Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants. Nystagmus is a feature of achromatopsia.
Congenital nystagmus v0.125 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Congenital nystagmus v0.125 OCA2 Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.125 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Congenital nystagmus v0.124 OCA2 Zornitza Stark Publications for gene: OCA2 were set to
Congenital nystagmus v0.123 LYST Zornitza Stark Marked gene: LYST as ready
Congenital nystagmus v0.123 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Congenital nystagmus v0.123 LYST Zornitza Stark Phenotypes for gene: LYST were changed from oculo-cutaneous albinism; Chediak-Higashi syndrome; optic neuropathy with progressive vision loss to Chediak-Higashi syndrome, MIM# 214500
Congenital nystagmus v0.122 LYST Zornitza Stark Publications for gene: LYST were set to 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 9215679; 10482950; 8896560
Congenital nystagmus v0.121 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Congenital nystagmus v0.121 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Congenital nystagmus v0.121 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Congenital nystagmus v0.120 LRMDA Zornitza Stark Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from to Leber congenital amaurosis 6, MIM# 613826; congenital nystagmus
Congenital nystagmus v0.118 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Congenital nystagmus v0.117 RPGRIP1 Zornitza Stark Mode of inheritance for gene: RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.116 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Congenital nystagmus v0.116 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Congenital nystagmus v0.116 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20 to Leber congenital amaurosis 2, 204100
Congenital nystagmus v0.115 RPE65 Zornitza Stark Publications for gene: RPE65 were set to
Congenital nystagmus v0.114 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Congenital nystagmus v0.114 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.114 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy to Fundus albipunctatus, MIM# 136880
Congenital nystagmus v0.113 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Congenital nystagmus v0.112 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.111 RDH5 Zornitza Stark Classified gene: RDH5 as Red List (low evidence)
Congenital nystagmus v0.111 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.110 ROM1 Zornitza Stark Marked gene: ROM1 as ready
Congenital nystagmus v0.110 ROM1 Zornitza Stark Gene: rom1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.110 ROM1 Zornitza Stark Phenotypes for gene: ROM1 were changed from to Retinitis pigmentosa 7, digenic form, MIM# 608133
Congenital nystagmus v0.109 ROM1 Zornitza Stark Publications for gene: ROM1 were set to
Congenital nystagmus v0.108 ROM1 Zornitza Stark Mode of inheritance for gene: ROM1 was changed from to Other
Congenital nystagmus v0.107 ROM1 Zornitza Stark Classified gene: ROM1 as Red List (low evidence)
Congenital nystagmus v0.107 ROM1 Zornitza Stark Gene: rom1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.106 RPGRIP1 Daniel Flanagan reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23505306; Phenotypes: Leber congenital amaurosis, congenital nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.106 RHO Zornitza Stark Marked gene: RHO as ready
Congenital nystagmus v0.106 RHO Zornitza Stark Gene: rho has been classified as Red List (Low Evidence).
Congenital nystagmus v0.106 RHO Zornitza Stark Phenotypes for gene: RHO were changed from Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
Congenital nystagmus v0.105 RHO Zornitza Stark Publications for gene: RHO were set to
Congenital nystagmus v0.104 RHO Zornitza Stark Classified gene: RHO as Red List (low evidence)
Congenital nystagmus v0.104 RHO Zornitza Stark Gene: rho has been classified as Red List (Low Evidence).
Congenital nystagmus v0.103 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Congenital nystagmus v0.103 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Congenital nystagmus v0.103 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712
Congenital nystagmus v0.102 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Congenital nystagmus v0.101 RDH12 Zornitza Stark Mode of inheritance for gene: RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.100 RDH12 Zornitza Stark reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.100 RD3 Zornitza Stark Marked gene: RD3 as ready
Congenital nystagmus v0.100 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.100 RD3 Zornitza Stark Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12 MIM#610612
Congenital nystagmus v0.99 RD3 Zornitza Stark Publications for gene: RD3 were set to
Congenital nystagmus v0.98 RD3 Zornitza Stark Mode of inheritance for gene: RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.97 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.97 RAB27A Zornitza Stark Classified gene: RAB27A as Red List (low evidence)
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.96 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.96 RPE65 Daniel Flanagan reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12960219, 14962443; Phenotypes: Leber congenital amaurosis 2, retinal diseases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.96 RDH5 Belinda Chong reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264; Phenotypes: Fundus albipunctatus 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.96 ROM1 Daniel Flanagan reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8202715, 32716032, 30630813; Phenotypes: Retinitis pigmentosa 7, digenic form; Mode of inheritance: Other
Congenital nystagmus v0.96 RHO Daniel Flanagan reviewed gene: RHO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18487375, 27812022, 31213501, 1303237; Phenotypes: Congenital stationary night blindness,retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.96 RDH12 Belinda Chong changed review comment from: Nystagmus is a feature of LCA; to: Nystagmus is a feature of LCA
Congenital nystagmus v0.96 RDH12 Belinda Chong reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582; Phenotypes: Leber congenital amaurosis 13 612712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.96 RD3 Belinda Chong reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12 MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.96 RD3 Belinda Chong Deleted their review
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Marked gene: PRPH2 as ready
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18 MIM#608133
Congenital nystagmus v0.95 PRPH2 Zornitza Stark Publications for gene: PRPH2 were set to
Congenital nystagmus v0.94 PRPH2 Zornitza Stark Mode of inheritance for gene: PRPH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.93 PRPH2 Zornitza Stark reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33712029; Phenotypes: Leber congenital amaurosis 18 MIM#608133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.93 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Congenital nystagmus v0.93 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Congenital nystagmus v0.93 PDE6C Zornitza Stark Publications for gene: PDE6C were set to 19615668; 30080950
Congenital nystagmus v0.92 PDE6B Zornitza Stark Marked gene: PDE6B as ready
Congenital nystagmus v0.92 PDE6B Zornitza Stark Gene: pde6b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.92 PDE6B Zornitza Stark Publications for gene: PDE6B were set to
Congenital nystagmus v0.91 PDE6B Zornitza Stark Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.90 PDE6B Zornitza Stark Classified gene: PDE6B as Red List (low evidence)
Congenital nystagmus v0.90 PDE6B Zornitza Stark Gene: pde6b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.89 PDE6B Zornitza Stark reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.89 RD3 Belinda Chong reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101; Phenotypes: Leber congenital amaurosis 12 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 RAB27A Belinda Chong reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 PRPH2 Belinda Chong changed review comment from: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).

PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.


PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.; to: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).

PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.


PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.
Congenital nystagmus v0.89 PRPH2 Belinda Chong reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23847139, 25447119, 1684223; Phenotypes: Choroidal dystrophy, central areolar 2 MIM#613105, Leber congenital amaurosis 18 MIM#608133, Macular dystrophy, patterned, 1 MIM#169150, Macular dystrophy, vitelliform, 3 MIM#608161, Retinitis pigmentosa 7 and digenic form MIM#608133, Retinitis punctata albescens MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 PDE6C Belinda Chong reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 19887631, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.89 PDE6B Belinda Chong reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 18854872, 8075643; Phenotypes: Retinitis pigmentosa-40 MIM#613801, Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Marked gene: IMPDH1 as ready
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11, MIM#613837
Congenital nystagmus v0.88 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Congenital nystagmus v0.87 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.86 IMPDH1 Zornitza Stark Classified gene: IMPDH1 as Amber List (moderate evidence)
Congenital nystagmus v0.86 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.85 IMPDH1 Zornitza Stark reviewed gene: IMPDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Marked gene: KCNJ13 as ready
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Green List (High Evidence).
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186
Congenital nystagmus v0.84 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Congenital nystagmus v0.83 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.82 LRAT Zornitza Stark Marked gene: LRAT as ready
Congenital nystagmus v0.82 LRAT Zornitza Stark Gene: lrat has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.82 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14, MIM#613341
Congenital nystagmus v0.81 LRAT Zornitza Stark Publications for gene: LRAT were set to
Congenital nystagmus v0.80 LRAT Zornitza Stark Mode of inheritance for gene: LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.79 LRAT Zornitza Stark Classified gene: LRAT as Amber List (moderate evidence)
Congenital nystagmus v0.79 LRAT Zornitza Stark Gene: lrat has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.78 LRAT Zornitza Stark reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 14, MIM#613341; Mode of inheritance: None
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Marked gene: LRIT3 as ready
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Publications for gene: LRIT3 were set to
Congenital nystagmus v0.77 LRIT3 Zornitza Stark Classified gene: LRIT3 as Red List (low evidence)
Congenital nystagmus v0.77 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.76 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes 604229, Optic nerve hypoplasia 165550 AD, Foveal hypoplasia 1 136520 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.76 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Congenital nystagmus v0.76 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.76 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD to Anterior segment dysgenesis 5, multiple subtypes 604229; Optic nerve hypoplasia 165550 AD; Foveal hypoplasia 1 136520 AD
Congenital nystagmus v0.75 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from to Leber congenital amaurosis 9 MIM#608553; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260
Congenital nystagmus v0.73 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Congenital nystagmus v0.72 NMNAT1 Zornitza Stark Mode of inheritance for gene: NMNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.71 NMNAT1 Zornitza Stark reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.71 NYX Zornitza Stark Marked gene: NYX as ready
Congenital nystagmus v0.71 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Congenital nystagmus v0.71 NYX Zornitza Stark Publications for gene: NYX were set to
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Phenotypes for gene: SPATA7 were changed from to Leber congenital amaurosis 3, MIM# 604232
Congenital nystagmus v0.69 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Congenital nystagmus v0.68 SPATA7 Zornitza Stark Mode of inheritance for gene: SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.67 SPATA7 Zornitza Stark reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19268277, 21310915; Phenotypes: Leber congenital amaurosis 3, MIM# 604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Marked gene: TRPM1 as ready
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Gene: trpm1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Publications for gene: TRPM1 were set to
Congenital nystagmus v0.66 TRPM1 Zornitza Stark reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.66 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Congenital nystagmus v0.66 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.66 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR to Leber congenital amaurosis 15, MIM# 613843
Congenital nystagmus v0.65 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Congenital nystagmus v0.64 TULP1 Zornitza Stark reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 24547928; Phenotypes: Leber congenital amaurosis 15, MIM# 613843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.64 TYR Zornitza Stark Marked gene: TYR as ready
Congenital nystagmus v0.64 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Congenital nystagmus v0.64 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB to Albinism, oculocutaneous, type IA, MIM# 203100; Albinism, oculocutaneous, type IB, MIM# 606952
Congenital nystagmus v0.63 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.62 TYR Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Nystagmus is a feature.
Congenital nystagmus v0.62 TYRP1 Zornitza Stark commented on gene: TYRP1: Well established gene-disease association, nystagmus is a feature.
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type III to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Congenital nystagmus v0.61 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Congenital nystagmus v0.60 USP45 Zornitza Stark Marked gene: USP45 as ready
Congenital nystagmus v0.60 USP45 Zornitza Stark Gene: usp45 has been classified as Green List (High Evidence).
Congenital nystagmus v0.60 USP45 Zornitza Stark Phenotypes for gene: USP45 were changed from to Leber congenital amaurosis; retinal dystrophy
Congenital nystagmus v0.59 USP45 Zornitza Stark Publications for gene: USP45 were set to
Congenital nystagmus v0.58 USP45 Zornitza Stark Mode of inheritance for gene: USP45 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.57 USP45 Zornitza Stark reviewed gene: USP45: Rating: GREEN; Mode of pathogenicity: None; Publications: 30573563; Phenotypes: Leber congenital amaurosis, retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.57 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Congenital nystagmus v0.57 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.57 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6 614075 AR to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Congenital nystagmus v0.56 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Congenital nystagmus v0.55 HPS6 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.55 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Congenital nystagmus v0.55 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.55 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)
Congenital nystagmus v0.54 HPS5 Zornitza Stark Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950
Congenital nystagmus v0.53 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.53 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Congenital nystagmus v0.53 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Congenital nystagmus v0.53 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Congenital nystagmus v0.52 HPS4 Zornitza Stark Publications for gene: HPS4 were set to 11836498; 15108212
Congenital nystagmus v0.51 HPS4 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.51 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Congenital nystagmus v0.51 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.51 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Congenital nystagmus v0.50 HPS3 Zornitza Stark Publications for gene: HPS3 were set to 11455388; 11590544
Congenital nystagmus v0.49 HPS3 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.49 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Congenital nystagmus v0.49 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.49 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Congenital nystagmus v0.48 HPS1 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Marked gene: GUCY2D as ready
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from to Leber congenital amaurosis 1, MIM# 204000
Congenital nystagmus v0.47 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Congenital nystagmus v0.46 GUCY2D Zornitza Stark Mode of inheritance for gene: GUCY2D was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.45 GUCY2D Zornitza Stark reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 8944027, 16505055, 23035049; Phenotypes: Leber congenital amaurosis 1, MIM# 204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.45 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Congenital nystagmus v0.45 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.45 GRM6 Zornitza Stark Publications for gene: GRM6 were set to
Congenital nystagmus v0.44 GRM6 Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.44 NYX Ain Roesley edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036
Congenital nystagmus v0.44 NYX Ain Roesley edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005
Congenital nystagmus v0.44 NYX Ain Roesley reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital nystagmus v0.44 GRK1 Zornitza Stark Marked gene: GRK1 as ready
Congenital nystagmus v0.44 GRK1 Zornitza Stark Gene: grk1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.44 GRK1 Zornitza Stark Classified gene: GRK1 as Red List (low evidence)
Congenital nystagmus v0.44 GRK1 Zornitza Stark Gene: grk1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.43 GRK1 Zornitza Stark reviewed gene: GRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oguchi disease-2, MIM# 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.43 GPR179 Zornitza Stark Marked gene: GPR179 as ready
Congenital nystagmus v0.43 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Congenital nystagmus v0.43 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Congenital nystagmus v0.42 GPR179 Zornitza Stark reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.42 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Congenital nystagmus v0.42 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Congenital nystagmus v0.42 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019; Nystagmus 6, congenital, X-linked, MIM# 300814
Congenital nystagmus v0.41 GPR143 Zornitza Stark Publications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867
Congenital nystagmus v0.40 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.39 GPR143 Zornitza Stark changed review comment from: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.

Well established gene-disease association.; to: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.

Well established gene-disease association.

At least 3 families reported with isolated XL nystagmus.
Congenital nystagmus v0.39 GPR143 Zornitza Stark edited their review of gene: GPR143: Changed publications: 7647783, 9529334, 11793467, 17516023, 18523664, 19390656; Changed phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019, Nystagmus 6, congenital, X-linked, MIM# 300814
Congenital nystagmus v0.39 GNB3 Zornitza Stark Marked gene: GNB3 as ready
Congenital nystagmus v0.39 GNB3 Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.39 GNB3 Zornitza Stark Publications for gene: GNB3 were set to
Congenital nystagmus v0.38 GNB3 Zornitza Stark Classified gene: GNB3 as Red List (low evidence)
Congenital nystagmus v0.38 GNB3 Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.37 GNB3 Zornitza Stark edited their review of gene: GNB3: Changed rating: RED
Congenital nystagmus v0.37 GNB3 Zornitza Stark changed review comment from: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.; to: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.

However, patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia.
Congenital nystagmus v0.37 GNAT2 Zornitza Stark reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.37 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Congenital nystagmus v0.37 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Marked gene: GNAT1 as ready
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Phenotypes for gene: GNAT1 were changed from Night blindness, congenital stationary, autosomal dominant 3, 610444 to Night blindness, congenital stationary, autosomal dominant 3, IM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389
Congenital nystagmus v0.36 GNAT1 Zornitza Stark Classified gene: GNAT1 as Red List (low evidence)
Congenital nystagmus v0.36 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.35 GNAT1 Zornitza Stark reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, IM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.35 GDF6 Zornitza Stark edited their review of gene: GDF6: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.35 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Congenital nystagmus v0.35 GDF6 Zornitza Stark Gene: gdf6 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.35 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from to Leber congenital amaurosis 17, MIM# 615360
Congenital nystagmus v0.34 GDF6 Zornitza Stark Publications for gene: GDF6 were set to
Congenital nystagmus v0.33 GDF6 Zornitza Stark Mode of inheritance for gene: GDF6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.32 GDF6 Zornitza Stark Classified gene: GDF6 as Red List (low evidence)
Congenital nystagmus v0.32 GDF6 Zornitza Stark Gene: gdf6 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.31 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 23307924; Phenotypes: Leber congenital amaurosis 17, MIM# 615360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.31 NMNAT1 Ain Roesley reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30004997, 33668384, 33308271, 33308271, 32150116, 22842230, 22842231, 22842227, 29184169; Phenotypes: Leber congenital amaurosis 9 MIM#608553, Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.31 PAX6 Belinda Chong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 8162071]; Phenotypes: Foveal hypoplasia 1 136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital nystagmus v0.31 LRIT3 Ain Roesley edited their review of gene: LRIT3: Changed publications: 23246293, 27428514
Congenital nystagmus v0.31 LRIT3 Ain Roesley changed review comment from: 2x unrelated families, no nystagmus reported; to: PMID:27428514;
2x unrelated families, no nystagmus reported

PMID:27428514;
1x with Schubert-Bornschein congenital stationary night blindness. Diagnostic criteria includes nystagmus though age of onset not specified
Congenital nystagmus v0.31 LRIT3 Ain Roesley reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: 23246293; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.31 LRAT Ain Roesley reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Marked gene: FRMD7 as ready
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Gene: frmd7 has been classified as Green List (High Evidence).
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Phenotypes for gene: FRMD7 were changed from Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 to Nystagmus 1, congenital, X-linked, MIM# 310700; Nystagmus, infantile periodic alternating, X-linked, MIM# 310700
Congenital nystagmus v0.30 FRMD7 Zornitza Stark Mode of inheritance for gene: FRMD7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.29 FRMD7 Zornitza Stark reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17013395, 17962394, 21303855; Phenotypes: Nystagmus 1, congenital, X-linked, MIM# 310700, Nystagmus, infantile periodic alternating, X-linked, MIM# 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.29 CRX Zornitza Stark Marked gene: CRX as ready
Congenital nystagmus v0.29 CRX Zornitza Stark Gene: crx has been classified as Green List (High Evidence).
Congenital nystagmus v0.29 CRX Zornitza Stark Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829
Congenital nystagmus v0.28 CRX Zornitza Stark Publications for gene: CRX were set to
Congenital nystagmus v0.27 CRX Zornitza Stark Mode of inheritance for gene: CRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.26 CRX Zornitza Stark reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190; Phenotypes: Leber congenital amaurosis 7, MIM# 613829; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.26 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Congenital nystagmus v0.26 CRB1 Zornitza Stark Gene: crb1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.26 CRB1 Zornitza Stark Phenotypes for gene: CRB1 were changed from to Leber congenital amaurosis 8, MIM# 613835
Congenital nystagmus v0.25 CRB1 Zornitza Stark Publications for gene: CRB1 were set to
Congenital nystagmus v0.24 CRB1 Zornitza Stark Mode of inheritance for gene: CRB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.23 CRB1 Zornitza Stark reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8, MIM# 613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.23 KCNJ13 Ain Roesley reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485; Phenotypes: Leber congenital amaurosis 16 MIM#614186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.23 IMPDH1 Ain Roesley reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.23 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Congenital nystagmus v0.23 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.23 CNGB3 Zornitza Stark changed review comment from: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese.; to: Well established gene-disease association. The c.1148delC is a common founder variant in the Pingelapese. Nystagmus is a feature.
Congenital nystagmus v0.23 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Congenital nystagmus v0.23 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.23 CNGA3 Zornitza Stark changed review comment from: Well established gene-disease association, over 100 families reported.; to: Well established gene-disease association, over 100 families reported. Characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colours. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent.
Congenital nystagmus v0.23 Zornitza Stark removed gene:CHM from the panel
Congenital nystagmus v0.22 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Congenital nystagmus v0.22 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Congenital nystagmus v0.22 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Leber congenital amaurosis 10, MIM# 611755
Congenital nystagmus v0.21 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Congenital nystagmus v0.20 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.19 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909394, 17554762, 33957996, 31734136; Phenotypes: Leber congenital amaurosis 10, MIM# 611755; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.19 CASK Zornitza Stark Marked gene: CASK as ready
Congenital nystagmus v0.19 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Congenital nystagmus v0.19 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD to Mental retardation, with or without nystagmus, MIM# 300422
Congenital nystagmus v0.18 CASK Zornitza Stark Publications for gene: CASK were set to
Congenital nystagmus v0.17 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19377476; Phenotypes: Mental retardation, with or without nystagmus, MIM# 300422; Mode of inheritance: None
Congenital nystagmus v0.17 Zornitza Stark removed gene:CACNA2D4 from the panel
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Green List (High Evidence).
Congenital nystagmus v0.16 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Aland Island eye disease 300600 XL; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476; Cone-rod dystrophy, X-linked, 3 300476 XLR; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL to Aland Island eye disease, MIM# 300600; Cone-rod dystrophy, X-linked, 3, MIM# 300476
Congenital nystagmus v0.15 CACNA1F Zornitza Stark Publications for gene: CACNA1F were set to
Congenital nystagmus v0.14 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559; Phenotypes: Aland Island eye disease, MIM# 300600, Cone-rod dystrophy, X-linked, 3, MIM# 300476; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Congenital nystagmus v0.14 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086
Congenital nystagmus v0.13 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developemental and epileptic encephalopathy 42, MIM# 617106, Episodic ataxia, type 2, MIM# 108500, Migraine, familial hemiplegic, 1, MIM# 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia 6, MIM# 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.13 CABP4 Zornitza Stark Marked gene: CABP4 as ready
Congenital nystagmus v0.13 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Congenital nystagmus v0.13 CABP4 Zornitza Stark Phenotypes for gene: CABP4 were changed from Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Congenital nystagmus v0.12 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Congenital nystagmus v0.11 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: None
Congenital nystagmus v0.11 ATF6 Zornitza Stark Marked gene: ATF6 as ready
Congenital nystagmus v0.11 ATF6 Zornitza Stark Gene: atf6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.11 ATF6 Zornitza Stark reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.11 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 AR to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Congenital nystagmus v0.10 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Congenital nystagmus v0.9 AP3B1 Zornitza Stark changed review comment from: Well established gene-disease association, oculo-cutaneous albinism and platelet defects.; to: Well established gene-disease association, oculo-cutaneous albinism and platelet defects. Nystagmus is a feature.
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.9 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from to Leber congenital amaurosis 4, MIM# 604393
Congenital nystagmus v0.8 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Congenital nystagmus v0.7 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.6 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, MIM# 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.4 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CRX was set to
Congenital nystagmus v0.4 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GUCY2D was set to
Congenital nystagmus v0.4 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: AIPL1 was set to
Congenital nystagmus v0.4 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SPATA7 was set to
Congenital nystagmus v0.4 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RDH12 was set to
Congenital nystagmus v0.4 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RPGRIP1 was set to
Congenital nystagmus v0.4 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CEP290 was set to
Congenital nystagmus v0.4 ROM1 Zornitza Stark gene: ROM1 was added
gene: ROM1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ROM1 was set to
Congenital nystagmus v0.4 GDF6 Zornitza Stark gene: GDF6 was added
gene: GDF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GDF6 was set to
Congenital nystagmus v0.4 IMPDH1 Zornitza Stark gene: IMPDH1 was added
gene: IMPDH1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: IMPDH1 was set to
Congenital nystagmus v0.4 USP45 Zornitza Stark gene: USP45 was added
gene: USP45 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: USP45 was set to
Congenital nystagmus v0.4 PRPH2 Zornitza Stark gene: PRPH2 was added
gene: PRPH2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PRPH2 was set to
Congenital nystagmus v0.4 TULP1 Zornitza Stark Source Expert Review Green was added to TULP1.
Source Expert list was added to TULP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital nystagmus v0.4 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LRAT was set to
Congenital nystagmus v0.4 KCNJ13 Zornitza Stark gene: KCNJ13 was added
gene: KCNJ13 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KCNJ13 was set to
Congenital nystagmus v0.4 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RD3 was set to
Congenital nystagmus v0.4 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CRB1 was set to
Congenital nystagmus v0.4 RPE65 Zornitza Stark Source Expert list was added to RPE65.
Congenital nystagmus v0.4 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NMNAT1 was set to
Congenital nystagmus v0.4 RGS9BP Zornitza Stark gene: RGS9BP was added
gene: RGS9BP was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9BP were set to 19818506; 14702087
Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415
Congenital nystagmus v0.4 RGS9 Zornitza Stark gene: RGS9 was added
gene: RGS9 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS9 were set to 10676965; 29107794; 14702087
Phenotypes for gene: RGS9 were set to Bradyopsia MIM#608415
Congenital nystagmus v0.4 PDE6H Zornitza Stark gene: PDE6H was added
gene: PDE6H was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6H were set to 22901948
Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024
Congenital nystagmus v0.4 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6C were set to 19615668; 30080950
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, MIM# 613093; Achromatopsia-5
Congenital nystagmus v0.4 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNAT2 were set to 32203983; 17251445
Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856
Congenital nystagmus v0.4 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGB3 were set to 17265047
Phenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300
Congenital nystagmus v0.4 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNGA3 were set to 9662398; 17265047; 11536077
Phenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900
Congenital nystagmus v0.4 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATF6 were set to 26029869; 26063662
Phenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517
Congenital nystagmus v0.4 ITM2B Zornitza Stark gene: ITM2B was added
gene: ITM2B was added to Congenital nystagmus. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Congenital nystagmus v0.4 TRPM1 Zornitza Stark gene: TRPM1 was added
gene: TRPM1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Congenital nystagmus v0.4 SLC24A1 Zornitza Stark gene: SLC24A1 was added
gene: SLC24A1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Congenital nystagmus v0.4 SAG Zornitza Stark gene: SAG was added
gene: SAG was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAG were set to Oguchi disease-1, MIM# 258100
Congenital nystagmus v0.4 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20
Congenital nystagmus v0.4 RIMS2 Zornitza Stark gene: RIMS2 was added
gene: RIMS2 was added to Congenital nystagmus. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIMS2 were set to night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970; retinal dysfunction; nystagmus; autism
Congenital nystagmus v0.4 RHO Zornitza Stark gene: RHO was added
gene: RHO was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RHO were set to Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa
Congenital nystagmus v0.4 RDH5 Zornitza Stark gene: RDH5 was added
gene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy
Congenital nystagmus v0.4 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa
Congenital nystagmus v0.4 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Congenital nystagmus v0.4 LRIT3 Zornitza Stark gene: LRIT3 was added
gene: LRIT3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Congenital nystagmus v0.4 GRM6 Zornitza Stark gene: GRM6 was added
gene: GRM6 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Congenital nystagmus v0.4 GRK1 Zornitza Stark gene: GRK1 was added
gene: GRK1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411
Congenital nystagmus v0.4 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Congenital nystagmus v0.4 GNB3 Zornitza Stark gene: GNB3 was added
gene: GNB3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1H, MIM# 617024
Congenital nystagmus v0.4 GNAT1 Zornitza Stark gene: GNAT1 was added
gene: GNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444
Congenital nystagmus v0.4 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Congenital nystagmus v0.4 CACNA2D4 Zornitza Stark gene: CACNA2D4 was added
gene: CACNA2D4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CACNA2D4 were set to Congenital Stationary Night Blindness; Retinal cone dystrophy 4, 610478
Congenital nystagmus v0.4 CACNA1F Zornitza Stark Source Royal Melbourne Hospital was added to CACNA1F.
Mode of inheritance for gene CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476 for gene: CACNA1F
Congenital nystagmus v0.4 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Congenital nystagmus v0.4 MITF Zornitza Stark Added phenotypes Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 for gene: MITF
Congenital nystagmus v0.4 GNAI3 Zornitza Stark Added phenotypes Auriculocondylar syndrome 1 602483; Ocular Albinism for gene: GNAI3
Congenital nystagmus v0.4 DGUOK Zornitza Stark Added phenotypes Mitochondrial DNA depletion syndrome 3 for gene: DGUOK
Congenital nystagmus v0.4 TULP1 Zornitza Stark Added phenotypes Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR for gene: TULP1
Congenital nystagmus v0.4 MYO5A Zornitza Stark Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A
Congenital nystagmus v0.4 MLPH Zornitza Stark Added phenotypes Griscelli syndrome, type 3 609227 AR for gene: MLPH
Congenital nystagmus v0.4 MANBA Zornitza Stark Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA
Congenital nystagmus v0.4 LAMA1 Zornitza Stark Added phenotypes Poretti-Boltshauser syndrome, OMIM:615960 for gene: LAMA1
Congenital nystagmus v0.4 DTNBP1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 7 614076 AR for gene: DTNBP1
Congenital nystagmus v0.4 DCT Zornitza Stark Added phenotypes Ocutaneous albinism for gene: DCT
Congenital nystagmus v0.4 BLOC1S6 Zornitza Stark Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6
Congenital nystagmus v0.4 BLOC1S5 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome, MONDO:0019312 for gene: BLOC1S5
Congenital nystagmus v0.4 BLOC1S3 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560 for gene: BLOC1S3
Congenital nystagmus v0.4 AP3D1 Zornitza Stark Added phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR for gene: AP3D1
Congenital nystagmus v0.4 AHR Zornitza Stark Added phenotypes Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus for gene: AHR
Congenital nystagmus v0.4 TYRP1 Zornitza Stark Added phenotypes Oculocutaneous Albinism; Albinism, oculocutaneous, type III for gene: TYRP1
Congenital nystagmus v0.4 TYR Zornitza Stark Added phenotypes Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB for gene: TYR
Congenital nystagmus v0.4 SLC45A2 Zornitza Stark Added phenotypes Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV for gene: SLC45A2
Congenital nystagmus v0.4 SLC38A8 Zornitza Stark Added phenotypes foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218 for gene: SLC38A8
Congenital nystagmus v0.4 SLC24A5 Zornitza Stark Added phenotypes Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI for gene: SLC24A5
Congenital nystagmus v0.4 SETX Zornitza Stark Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR for gene: SETX
Congenital nystagmus v0.4 SACS Zornitza Stark Added phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR for gene: SACS
Congenital nystagmus v0.4 RAB27A Zornitza Stark Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A
Congenital nystagmus v0.4 PAX6 Zornitza Stark Added phenotypes Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD for gene: PAX6
Congenital nystagmus v0.4 OCA2 Zornitza Stark Added phenotypes Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous for gene: OCA2
Congenital nystagmus v0.4 LYST Zornitza Stark Added phenotypes optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism for gene: LYST
Congenital nystagmus v0.4 LRMDA Zornitza Stark Added phenotypes Albinism, oculocutaneous, type VII for gene: LRMDA
Congenital nystagmus v0.4 HPS6 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 6 614075 AR for gene: HPS6
Congenital nystagmus v0.4 HPS5 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 5 for gene: HPS5
Congenital nystagmus v0.4 HPS4 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 4 for gene: HPS4
Congenital nystagmus v0.4 HPS3 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 3 for gene: HPS3
Congenital nystagmus v0.4 HPS1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 1 for gene: HPS1
Congenital nystagmus v0.4 GPR143 Zornitza Stark Added phenotypes Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143
Congenital nystagmus v0.4 FRMD7 Zornitza Stark Added phenotypes Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7
Congenital nystagmus v0.4 CASK Zornitza Stark Added phenotypes Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD for gene: CASK
Congenital nystagmus v0.4 CACNA1F Zornitza Stark Added phenotypes Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL for gene: CACNA1F
Congenital nystagmus v0.4 CACNA1A Zornitza Stark Added phenotypes Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated for gene: CACNA1A
Congenital nystagmus v0.4 AP3B1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 2 608233 AR for gene: AP3B1
Congenital nystagmus v0.3 Zornitza Stark Panel name changed from Albinism or congenital nystagmus to Congenital nystagmus
Congenital nystagmus v0.0 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MITF were set to Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470
Congenital nystagmus v0.0 GNAI3 Zornitza Stark gene: GNAI3 was added
gene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNAI3 were set to 27607449
Phenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism
Congenital nystagmus v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 12210798; 12205643
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3
Congenital nystagmus v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR
Congenital nystagmus v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR
Congenital nystagmus v0.0 MLPH Zornitza Stark gene: MLPH was added
gene: MLPH was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLPH were set to Griscelli syndrome, type 3 609227 AR
Congenital nystagmus v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR
Congenital nystagmus v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 29167897; 28283601; 32195884; 25105227; 328840387; 33251915
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, OMIM:615960
Congenital nystagmus v0.0 DTNBP1 Zornitza Stark gene: DTNBP1 was added
gene: DTNBP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTNBP1 were set to Hermansky-Pudlak syndrome 7 614076 AR
Congenital nystagmus v0.0 DCT Zornitza Stark gene: DCT was added
gene: DCT was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to 33100333
Phenotypes for gene: DCT were set to Ocutaneous albinism
Congenital nystagmus v0.0 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR
Congenital nystagmus v0.0 BLOC1S5 Zornitza Stark gene: BLOC1S5 was added
gene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome, MONDO:0019312
Congenital nystagmus v0.0 BLOC1S3 Zornitza Stark gene: BLOC1S3 was added
gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S3 were set to 16385460; 32687635; 22709368
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Congenital nystagmus v0.0 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3D1 were set to ?Hermansky-Pudlak syndrome 10 617050 AR
Congenital nystagmus v0.0 AHR Zornitza Stark gene: AHR was added
gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 28851966; 31009037; 23301081
Phenotypes for gene: AHR were set to Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus
Congenital nystagmus v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Oculocutaneous Albinism; Albinism, oculocutaneous, type III
Congenital nystagmus v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB
Congenital nystagmus v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous Albinism; Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV
Congenital nystagmus v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 32744312; 24045842; 29345414; 24290379
Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216; Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
Congenital nystagmus v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported
Phenotypes for gene: SLC24A5 were set to Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI
Congenital nystagmus v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR
Congenital nystagmus v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type 270550 AR
Congenital nystagmus v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR
Congenital nystagmus v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD
Congenital nystagmus v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blond/brown hair; Albinism, oculocutaneous, type II; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous
Congenital nystagmus v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 9215679; 10482950; 8896560
Phenotypes for gene: LYST were set to optic neuropathy with progressive vision loss; Chediak-Higashi syndrome; oculo-cutaneous albinism
Congenital nystagmus v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII
Congenital nystagmus v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6 614075 AR
Congenital nystagmus v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Congenital nystagmus v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 11836498; 15108212
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Congenital nystagmus v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 11455388; 11590544
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Congenital nystagmus v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Congenital nystagmus v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867
Phenotypes for gene: GPR143 were set to Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500
Congenital nystagmus v0.0 FRMD7 Zornitza Stark gene: FRMD7 was added
gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FRMD7 were set to 17013395; 17397053; 18431453; 17846367; 21303855; 24688117
Phenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700
Congenital nystagmus v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; FG syndrome 4 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD
Congenital nystagmus v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL
Congenital nystagmus v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 19182766
Phenotypes for gene: CACNA1A were set to Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; CACNA1A-Related Episodic Ataxia Type 2; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
Congenital nystagmus v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 AR
Congenital nystagmus v0.0 Zornitza Stark Added panel Albinism or congenital nystagmus